Variant report

Variant	rs12188075
Chromosome Location	chr5:37051246-37051247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10941319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11743833	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12153359	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12187383	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12513653	0.87[EUR][1000 genomes]
rs12516349	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12520272	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12520324	0.87[EUR][1000 genomes]
rs12520562	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521488	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903365	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903373	0.84[EUR][1000 genomes]
rs16903403	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16903429	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16903442	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16903456	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16903466	0.94[ASN][1000 genomes]
rs16903469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903477	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365495	0.87[EUR][1000 genomes]
rs2365838	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3776588	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3822471	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3849756	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56680779	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56999464	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60633925	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60643425	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60730034	0.83[EUR][1000 genomes]
rs61638663	0.82[ASN][1000 genomes]
rs62654863	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:37012400-37064600	Weak transcription	Gastric	stomach
10	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
13	chr5:37022400-37063600	Weak transcription	NHEK	skin
14	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
16	chr5:37029800-37058200	Weak transcription	Right Ventricle	heart
17	chr5:37030800-37063800	Weak transcription	Fetal Brain Male	brain
18	chr5:37032200-37059400	Weak transcription	Aorta	Aorta
19	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:37036000-37054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:37036600-37065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:37037400-37054600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:37037600-37053400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:37037600-37056000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:37037600-37065600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:37037600-37065600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:37037600-37067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:37037800-37056200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:37037800-37065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:37038000-37055000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:37038200-37056000	Strong transcription	Adipose Nuclei	Adipose
32	chr5:37038200-37065000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:37038200-37066000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:37038200-37067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:37040600-37060800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:37040600-37065600	Strong transcription	Fetal Intestine Large	intestine
38	chr5:37041600-37054400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:37041800-37065600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:37042000-37054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:37042000-37065600	Strong transcription	Placenta	Placenta
42	chr5:37042200-37065600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr5:37042400-37065600	Strong transcription	Fetal Thymus	thymus
44	chr5:37042600-37063000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr5:37042800-37064000	Weak transcription	Spleen	Spleen
46	chr5:37043400-37055200	Strong transcription	Fetal Lung	lung
47	chr5:37043400-37066400	Strong transcription	Liver	Liver
48	chr5:37043600-37053000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr5:37043600-37065200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:37043600-37065600	Strong transcription	Dnd41	blood

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